M152T (p.Met152Thr) variant of GYS2 (P54840)
M152T (p.Met152Thr) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M152T (p.Met152Thr) variant details
- p.Met152Thr
- 1000Genomes rs2136906068
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.25
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available